OR5A1

Summary

OR5A1 (olfactory receptor family 5 subfamily A member 1, HGNC:8319) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 5A1 (Q8NGJ0). Odorant receptor.

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome.

Source: NCBI Gene 219982 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 49 total
• MANE Select transcript: NM_001004728

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8319
Approved symbol	OR5A1
Name	olfactory receptor family 5 subfamily A member 1
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Aliases	OST181
Ensembl gene	ENSG00000172320
Ensembl biotype	protein_coding
Entrez	219982

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641045

RefSeq mRNA: 1 — MANE Select: NM_001004728 NM_001004728

CCDS: CCDS31561

Canonical transcript exons

ENST00000641045 — 2 exons

Exon	Start	End
ENSE00003812101	59436469	59436835
ENSE00003812868	59443136	59451380

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 74.49.

Top tissues by expression

126 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.49	gold quality
sural nerve	UBERON:0015488	48.82	gold quality
bone marrow	UBERON:0002371	40.94	gold quality
bone marrow cell	CL:0002092	39.89	gold quality
ventricular zone	UBERON:0003053	39.88	gold quality
monocyte	CL:0000576	39.52	gold quality
leukocyte	CL:0000738	39.03	gold quality
hindlimb stylopod muscle	UBERON:0004252	38.55	gold quality
skeletal muscle tissue	UBERON:0001134	37.52	gold quality
calcaneal tendon	UBERON:0003701	37.37	gold quality
lower esophagus mucosa	UBERON:0035834	37.25	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
granulocyte	CL:0000094	37.18	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
blood	UBERON:0000178	36.39	gold quality
tonsil	UBERON:0002372	35.99	gold quality
primary visual cortex	UBERON:0002436	35.48	gold quality
muscle tissue	UBERON:0002385	35.25	gold quality
vermiform appendix	UBERON:0001154	35.17	gold quality
liver	UBERON:0002107	34.70	gold quality
mucosa of transverse colon	UBERON:0004991	34.12	gold quality
lymph node	UBERON:0000029	33.20	gold quality
muscle of leg	UBERON:0001383	32.77	gold quality
adrenal tissue	UBERON:0018303	32.75	gold quality
gastrocnemius	UBERON:0001388	32.27	gold quality
cortex of kidney	UBERON:0001225	31.75	gold quality
mucosa of stomach	UBERON:0001199	31.63	gold quality
heart left ventricle	UBERON:0002084	31.36	gold quality
left uterine tube	UBERON:0001303	30.95	gold quality
ectocervix	UBERON:0012249	30.79	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-111727	yes	341.00
E-ANND-3	yes	5.40
E-GEOD-124858	no	129.29
E-MTAB-6386	no	70.61
E-GEOD-86618	no	33.70
E-GEOD-100618	no	16.99

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5a1	ENSMUSG00000067522
rattus_norvegicus	Or5a1	ENSRNOG00000079882

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A2 (ENSG00000172324), OR5B12 (ENSG00000172362), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AR1 (ENSG00000172459), OR5AP2 (ENSG00000172464), OR8J1 (ENSG00000172487), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 5A1 — Q8NGJ0 (reviewed: Q8NGJ0)

Alternative names: OST181, Olfactory receptor OR11-249

All UniProt accessions (1): Q8NGJ0

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_001004728* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050516	Olfactory_GPCR	Family

Pfam: PF13853

UniProt features (20 total): topological domain 8, transmembrane region 7, sequence variant 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGJ0-F1	88.00	0.66

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (1): 100–192

Glycosylation sites (1): 8

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 19 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_ODORANT_BINDING, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, ZNF22_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, ZHANG_FH_DEFICIENT_RCC_C2_VS_OTHERS_UP

GO Biological Process (4): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane signaling receptor activity	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
sensory perception of chemical stimulus	1
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	1
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

198 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5A1	CIROZ	Q8N9H9	465
OR5A1	TAAR5	O14804	445
OR5A1	HYLS1	Q96M11	381
OR5A1	RTP2	Q5QGT7	370
OR5A1	RFPL2	O75678	370
OR5A1	SYNE1	Q8NF91	353
OR5A1	IQSEC3	Q9UPP2	353
OR5A1	TMEM276	P0DTL5	352
OR5A1	SMTNL2	Q2TAL5	346
OR5A1	TAPT1	Q6NXT6	343
OR5A1	IGSF21	Q96ID5	340
OR5A1	GIPC2	Q8TF65	334
OR5A1	TANC1	Q9C0D5	328
OR5A1	RESP18	Q5W5W9	320
OR5A1	MYOZ3	Q8TDC0	317

IntAct

2 interactions, top by confidence:

A	B	Type	Score
SRPK2	OR5A1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440

BioGRID (2): OR5A1 (Co-fractionation), OR5A1 (Co-fractionation)

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, P0C604, P0C623, P0C645, P0DN82, P58180, P58182, Q15615, Q60881, Q6IF82, Q8IXE1, Q8N0Y3, Q8NGA8, Q8NGB4, Q8NGB6, Q8NGC2, Q8NGC3, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD5, Q8NGE8, Q8NGF4, Q8NGF8, Q8NGF9, Q8NGI4, Q8NGI6, Q8NGJ0, Q8NGJ1, Q8NGL6, Q8NGM1, Q8NGN0, Q8NGN8, Q8NGX5, Q8NH05, Q8NH42, Q8NH49

Diamond homologs: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O60412, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P23270, P23275, P58173, P58180, P58182, Q15615, Q60878, Q60881, Q60888, Q6IEV9, Q6IEY1, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8N628, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

49 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

440 predictions. Top by Δscore:

Variant	Effect	Δscore
11:59443840:A:AG	acceptor_gain	0.8900
11:59443841:G:GG	acceptor_gain	0.8900
11:59443761:GTCAA:G	acceptor_gain	0.8500
11:59443830:AT:A	acceptor_gain	0.8400
11:59443831:T:TA	acceptor_gain	0.8300
11:59443841:GT:G	acceptor_gain	0.8300
11:59443760:A:AG	acceptor_gain	0.8200
11:59443761:G:GG	acceptor_gain	0.8200
11:59443831:T:G	acceptor_gain	0.8200
11:59443726:A:AG	acceptor_gain	0.7800
11:59443727:G:GG	acceptor_gain	0.7800
11:59443714:C:CA	acceptor_gain	0.7300
11:59443834:TTACA:T	donor_gain	0.7300
11:59443835:TACAT:T	donor_gain	0.7300
11:59443836:ACATA:A	donor_gain	0.7300
11:59444048:A:AG	acceptor_gain	0.7300
11:59444049:G:GG	acceptor_gain	0.7300
11:59444049:GTTT:G	acceptor_gain	0.6900
11:59443838:A:AG	acceptor_gain	0.6800
11:59443801:A:T	donor_gain	0.6700
11:59443841:GTGT:G	acceptor_gain	0.6700
11:59443837:C:G	acceptor_gain	0.6500
11:59443839:TAGT:T	acceptor_loss	0.6500
11:59443841:G:GA	acceptor_loss	0.6500
11:59443782:T:TA	acceptor_gain	0.6400
11:59443786:G:GA	donor_gain	0.6400
11:59443837:CATA:C	acceptor_loss	0.6400
11:59443839:T:G	acceptor_gain	0.6400
11:59443838:ATAGT:A	acceptor_gain	0.6300
11:59443800:G:GT	donor_gain	0.6200

AlphaMissense

2051 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:59443211:T:C	F15L	0.897
11:59443213:C:A	F15L	0.897
11:59443213:C:G	F15L	0.897
11:59443679:T:C	F171L	0.884
11:59443681:T:A	F171L	0.884
11:59443681:T:G	F171L	0.884
11:59443640:A:C	S158R	0.842
11:59443642:C:A	S158R	0.842
11:59443642:C:G	S158R	0.842
11:59444048:A:C	S294R	0.830
11:59444050:T:A	S294R	0.830
11:59444050:T:G	S294R	0.830
11:59443706:T:C	F180L	0.821
11:59443708:C:A	F180L	0.821
11:59443708:C:G	F180L	0.821
11:59443531:G:A	M121I	0.809
11:59443531:G:C	M121I	0.809
11:59443531:G:T	M121I	0.809
11:59443931:T:C	F255L	0.798
11:59443933:T:A	F255L	0.798
11:59443933:T:G	F255L	0.798
11:59443709:T:C	F181L	0.788
11:59443711:C:A	F181L	0.788
11:59443711:C:G	F181L	0.788
11:59443667:T:C	F167L	0.787
11:59443669:T:A	F167L	0.787
11:59443669:T:G	F167L	0.787
11:59443542:G:C	R125P	0.779
11:59443728:T:A	V187D	0.775
11:59443268:T:C	F34L	0.764

dbSNP variants (sampled 300 via entrez): RS1000410065 (11:59436205 T>C), RS1000881278 (11:59441987 G>A,T), RS1001002572 (11:59447437 G>A), RS1001251252 (11:59435339 T>A), RS1001293197 (11:59435063 C>T), RS1001440110 (11:59448156 G>A), RS1001518571 (11:59447125 G>C), RS1001617737 (11:59448231 T>A,G), RS1001661133 (11:59435406 T>C,G), RS1001752259 (11:59441775 G>A,T), RS1001834605 (11:59441717 C>G), RS1002090851 (11:59440311 A>G), RS1002159564 (11:59447926 AT>A,ATT), RS1002855204 (11:59444757 A>T), RS1003185320 (11:59446091 T>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	decreases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.